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Screening in patients with BRCA mutations begins between ages 25 and 30. Typically performed twice a year Often includes clinical breast exams and mammography alternating with MRI. Obtain education about breast self-examination by early 20s. Biopsy palpable breast masses immediately.
Breast cancer risk and screening in BRCA mutations and perhaps women with Fanconi Anemia
Breast cancer screening and Fanconi Anemia: some considerations
FA patients have an elevated sensitivity to radiation exposure from underlying defects in DNA repair. Long-term risks of radiation exposure with mammography weighed against benefits with early detection Magnetic resonance imaging (MRI) very sensitive for detecting breast tumors MRI high false-positive rate
Breast cancer screening and Fanconi Anemia: Is MRI the best tool for screening for breast cancer in FA?
MRI more sensitive for detecting tumors after menopause, when the breast tissue less dense MRI may be preferred over mammography in post-menopausal patients with FA as a way to minimize radiation exposure from mammograms This concept has not been studied in women with FA
Secondary cancer after hematopoietic stem cell transplantation in Fanconi Anemia
Fanconi anemia Secondary cancer after HSCT
Secondary cancers common after HSCT Squamous cell cancers more common in women with graft versus host disease Possibly related to radiation, HPV disease, mosaicism Potential role of HPV vaccination
NIH HPV vaccination study after stem cell transplant Background
After transplant, immunity is altered Long-term one third of women post stem cell transplant found to have genital HPV disease
Hypothesis Quadrivalent human papillomavirus (types 6, 11, 16, 18) recombinant vaccine is a safe and effective way to reduce the rate of post-transplant HPV-related disease in females who have undergone stem cell transplantation.
Gardasil study visits
Other secondary cancers after stem cell transplant
Breast cancer surveillance should begin 8 years after stem cell transplant if total body radiation was performed
Fanconi anemia Menopause health risks
Premature menopause Post menopausal health risks
Osteoporosis Cardiovascular disease Breast cancer
Consider these risks in FA patients Management of hot flashes
Risks and benefits for hormone replacement for menopausal symptoms: Lessons learned from the Women’s Health Initiative
Women’s Health Initiative – Post-menopausal hormone replacement
therapy study Protection against bone loss Increased risk of heart attack, stroke, and thromboembolic disease Slightly increased risk of breast cancer
Menopausal hormone replacement and Fanconi Anemia: general considerations
In general, women who experience premature menopause and do not use hormone therapy tend to have higher rates of illness and death compared with those who take hormones. Hormone therapy is recommended for young women with FA who undergo premature menopause.
Assess an individual patient’s family history of cardiovascular disease Monitor lipid profiles, insulin resistance and blood pressure as part of a cardiovascular disease risk assessment. Pay attention to the effects of androgen therapy on lipids. Hormone replacement therapy may be contraindicated for patients who have cardiovascular disease risk factors.
Hormone replacement and Fanconi Anemia: cardiovascular risk
Low bone density increases the risk of bone fractures Osteoporosis treatment options
Bisphosphonates – prevent bone resorption Hormone replacement Calcium Vitamin D
Menopause, Fanconi Anemia, and Bone density
Treatment of menopausal symptoms Hot flashes Vaginal dryness Pain with intercourse
Types of hormone therapy Oral contraceptive pills Post menopausal hormone therapy Combination of estrogen and progestins
Menopausal hormone replacement and Fanconi Anemia: general considerations
Genital squamous cancer screening and treatment in Fanconi anemia
HPV vaccination, repeat after stem cell transplant Annual exam
Comprehensive by age 18 Includes cervical cytology Inspect vulva (and vagina) for lesions Any lesions should be treated aggressively with surgery If cancer, see gynecologic oncologist immediately Monitor more frequently after pre-cancer
Breast cancer screening in Fanconi Anemia
Screening should begin by mid-20s MRI breast versus mammography Palpable breast lumps should be biopsied
Fertility issues in Fanconi anemia
May be less fertile, especially after transplant AMH testing may predict POI Pregnancy well tolerated Pregnancy should be managed by maternal fetal medicine specialist
Perform prenatal diagnosis Minimize complications during pregnancy Time delivery
Reproductive options in Women with Fanconi Anemia
Cryopreservation (preservation by freezing) of embryos possible reproductive option Donor oocyte Adoption Surrogacy
Use contraception when pregnancy not desired
Management of menopause in Fanconi anemia
Consider hormone replacement therapy – estrogen and progestin to women under age 50 with premature menopause Treat menopausal symptoms Monitor lipids, cardiovascular risk
Androgens may increase cardiovascular risk Monitor for osteoporosis
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